CHCHD3 Human

The Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3 (CHCHD3) is a member of the CHCHD protein family, which are small mitochondrial proteins encoded by the nucleus. These proteins are evolutionarily conserved and play significant roles in various cellular processes, particularly within the mitochondria. The CHCHD3 protein is characterized by the presence of a coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by disulfide bonds between helices .

CHCHD3, like other CHCHD proteins, is involved in maintaining mitochondrial structure and function. It plays a crucial role in stabilizing the mitochondrial cristae, which are the folds of the inner mitochondrial membrane. This stabilization is essential for maintaining the integrity of the mitochondrial structure and ensuring efficient mitochondrial respiration .

Mutations in CHCHD3 and other CHCHD proteins have been linked to various neurodegenerative diseases. For instance, mutations in CHCHD10, a related protein, are associated with amyotrophic lateral sclerosis (ALS), frontotemporal lobe dementia (FTD), motor neuron disease, and mitochondrial myopathy. These mutations can lead to abnormalities in mitochondrial crista structure, deficiencies in respiratory chain complexes, impaired mitochondrial respiration, and multiple mitochondrial DNA deletions .

Research into CHCHD3 and other CHCHD proteins is ongoing, with a focus on understanding their roles in mitochondrial function and their potential as therapeutic targets for neurodegenerative diseases. The multifunctional nature of these proteins, including their involvement in mitochondrial metabolism, synthesis of respiratory chain components, and modulation of cell apoptosis, makes them promising candidates for further study .